Canonical Allele Identifier: CA345988255
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs370661042
gnomAD v2: 2-21229816-A-C
gnomAD v3: 2-21006944-A-C
gnomAD v4: 2-21006944-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006944A>C , CM000664.2:g.21006944A>C GRCh38
NC_000002.11:g.21229816A>C , CM000664.1:g.21229816A>C GRCh37
NC_000002.10:g.21083321A>C NCBI36
NG_011793.1:g.42130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9924T>G MANE Select ENSP00000233242.1:p.His3308Gln
ENST00000616098.4:c.9924T>G ENSP00000477990.1:p.His3308Gln
NM_000384.2:c.9924T>G NP_000375.2:p.His3308Gln
XM_011532809.1:c.5869+3789T>G XP_011531111.1:n.5869+3789T>G
NM_000384.3:c.9924T>G MANE Select NP_000375.3:p.His3308Gln